Canonical Allele Identifier: CA478165684

Gene: TPI1

Linked Data

• ClinVar Variation Id: 747578
• ClinVar RCV Id: RCV000924299
• dbSNP Id: rs1407289344
• gnomAD v4: 12-6870299-C-T
• MyVariant Identifiers: chr12:g.6979463C>T (hg19) ; chr12:g.6870299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6870299C>T , CM000674.2:g.6870299C>T	GRCh38
NC_000012.11:g.6979463C>T , CM000674.1:g.6979463C>T	GRCh37
NC_000012.10:g.6849724C>T	NCBI36
NG_011948.1:g.7880C>T
NG_013308.1:g.8059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396705.10:c.666C>T MANE Select	ENSP00000379933.4:p.Ala222=
ENST00000229270.8:c.777C>T	ENSP00000229270.4:p.Ala259=
ENST00000396705.9:c.666C>T	ENSP00000379933.4:p.Ala222=
ENST00000474253.1:n.155C>T
ENST00000488464.6:c.420C>T	ENSP00000475620.1:p.Ala140=
ENST00000535434.5:c.420C>T	ENSP00000443599.1:p.Ala140=
ENST00000613953.4:c.777C>T	ENSP00000484435.1:p.Ala259=
NM_000365.5:c.666C>T	NP_000356.1:p.Ala222=
NM_001159287.1:c.777C>T	NP_001152759.1:p.Ala259=
NM_001258026.1:c.420C>T	NP_001244955.1:p.Ala140=
XR_002957378.1:n.1674C>T
NM_000365.6:c.666C>T MANE Select	NP_000356.1:p.Ala222=
NM_001258026.2:c.420C>T	NP_001244955.1:p.Ala140=